Graphical Abstract:

Abstract:

Background & Objective: Voltage-gated sodium channels (VGSCs) are responsible for the
generation and propagation of action potentials in most excitable cells. In general, a VGSC consists of
one pore-forming α subunit and two auxiliary β subunits. Genetic alterations in VGSCs genes, including
both α and β subunits, are considered to be associated with epileptogenesis as well as seizures.
This review aims to summarize the mutations in VGSC α subunits in epilepsy, particularly the pathophysiological
and pharmacological properties of relevant VGSC mutants.

Conclusion: The review of epilepsy-associated VGSC α subunits mutants may not only contribute to
the understanding of disease mechanism and genetic modifiers, but also provide potential theoretical
targets for the precision and individualized medicine for epilepsy.

Background & Objective: Voltage-gated sodium channels (VGSCs) are responsible for the
generation and propagation of action potentials in most excitable cells. In general, a VGSC consists of
one pore-forming α subunit and two auxiliary β subunits. Genetic alterations in VGSCs genes, including
both α and β subunits, are considered to be associated with epileptogenesis as well as seizures.
This review aims to summarize the mutations in VGSC α subunits in epilepsy, particularly the pathophysiological
and pharmacological properties of relevant VGSC mutants.

Conclusion: The review of epilepsy-associated VGSC α subunits mutants may not only contribute to
the understanding of disease mechanism and genetic modifiers, but also provide potential theoretical
targets for the precision and individualized medicine for epilepsy.